MCID: SPH010
MIFTS: 47

Sphingolipidosis

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Sphingolipidosis

MalaCards integrated aliases for Sphingolipidosis:

Name: Sphingolipidosis 12 74 52 58 36 15
Sphingolipidoses 12 52 54 43 71

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:1927
KEGG 36 H00423
MeSH 43 D013106
NCIt 49 C117254
SNOMED-CT 67 238028008
ICD10 32 E75.3
MESH via Orphanet 44 D013106
ICD10 via Orphanet 33 E75.0 E75.1 E75.2 more
UMLS via Orphanet 72 C0037899
Orphanet 58 ORPHA79225
UMLS 71 C0037899

Summaries for Sphingolipidosis

KEGG : 36 The sphingolipidoses are a group of monogenic inherited diseases caused by defects in the system of lysosomal sphingolipid degradation, with subsequent accumulation of non-degradable storage material in one or more organs.

MalaCards based summary : Sphingolipidosis, also known as sphingolipidoses, is related to gaucher's disease and combined saposin deficiency. An important gene associated with Sphingolipidosis is PSAP (Prosaposin), and among its related pathways/superpathways are Sphingolipid metabolism and Lysosome. The drugs Glycerol and Alendronate have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and t cells, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates.

Wikipedia : 74 Sphingolipidoses are a class of lipid storage disorders relating to sphingolipid metabolism. The main... more...

Related Diseases for Sphingolipidosis

Diseases related to Sphingolipidosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 119)
# Related Disease Score Top Affiliating Genes
1 gaucher's disease 34.0 UGCG PSAP GBA CHIT1 ARSA
2 combined saposin deficiency 33.5 PSAP GALC ARSA
3 fabry disease 33.5 UGCG PSAP GLA GBA CHIT1 ARSA
4 metachromatic leukodystrophy 32.6 SMPD1 PSAP NPC2 NPC1 HEXA GM2A
5 niemann-pick disease, type c1 31.9 UGCG SMPD1 PSAP NPC2 NPC1 CTSA
6 tay-sachs disease 31.9 UGCG SMPD1 PSAP OGA NPC2 NPC1
7 niemann-pick disease, type c2 31.8 SMPD1 PSAP NPC2 NPC1
8 farber lipogranulomatosis 31.7 UGCG SMPD1 PSAP GM2A GALC ASAH2
9 gaucher disease, type i 31.5 UGCG SMPD1 PSAP HEXA GLA GBA
10 acid sphingomyelinase deficiency 31.4 SMPD1 NPC1
11 niemann-pick disease 31.3 UGCG SMPD1 PSAP NPC2 NPC1 GBA
12 inherited metabolic disorder 31.2 NPC2 NPC1 GLA GBA
13 gaucher disease, type iii 31.1 PSAP GBA CHIT1
14 gaucher disease, type ii 31.0 SMPD1 PSAP GBA CHIT1
15 niemann-pick disease, type b 31.0 SMPD1 NPC2 NPC1 CHIT1
16 angiokeratoma 31.0 UGCG GLA CTSA
17 niemann-pick disease type c, juvenile neurologic onset 30.9 NPC2 NPC1
18 niemann-pick disease type c, adult neurologic onset 30.9 NPC2 NPC1
19 niemann-pick disease type c, severe early infantile neurologic onset 30.9 NPC2 NPC1
20 infantile krabbe disease 30.9 PSAP GALC
21 niemann-pick disease type c, late infantile neurologic onset 30.9 NPC2 NPC1
22 niemann-pick disease type c, severe perinatal form 30.9 NPC2 NPC1
23 cerebral lipidosis 30.9 SMPD1 GLB1 CHIT1
24 niemann-pick disease, type a 30.9 SMPD1 PSAP NPC2 NPC1 CHIT1 ASAH2
25 metachromatic leukodystrophy, juvenile form 30.9 PSAP ARSA
26 gangliosidosis 30.9 UGCG PSAP HEXB HEXA GM2A GLB1
27 metachromatic leukodystrophy, late infantile form 30.9 PSAP ARSA
28 galactosialidosis 30.8 PSAP GLB1 CTSA
29 metachromatic leukodystrophy, adult form 30.8 PSAP ARSA
30 gm1-gangliosidosis, type i 30.8 PSAP HEXA GLB1 GLA ARSA
31 gm1 gangliosidosis 30.5 UGCG PSAP OGA NPC2 NPC1 GM2A
32 krabbe disease 30.5 SMPD1 PSAP GLA GBA GALC CTSA
33 lipid storage disease 30.5 UGCG SMPD1 PSAP NPC2 NPC1 GLB1
34 mucopolysaccharidosis-plus syndrome 30.3 SMPD1 OGA NPC2 NPC1 HEXB HEXA
35 sandhoff disease 30.2 UGCG SMPD1 PSAP OGA NPC2 NPC1
36 lysosomal storage disease 30.0 SMPD1 PSAP NPC2 NPC1 HEXB HEXA
37 gm2 gangliosidosis 29.9 UGCG SMPD1 PSAP OGA NPC2 NPC1
38 sphingolipidosis with epilepsy 12.2
39 multiple sulfatase deficiency 11.7
40 sea-blue histiocyte disease 11.2
41 lysosomal disease 10.6 GBA GALC
42 neuraminidase deficiency 10.6 PSAP GLB1 CTSA
43 mucopolysaccharidosis, type iva 10.6 GLB1 GALC ARSA
44 glycoproteinosis 10.6 PSAP GLB1 CTSA
45 chitotriosidase deficiency 10.6 GBA CHIT1
46 hereditary late-onset parkinson disease 10.6 PSAP GBA
47 mucopolysaccharidosis, type vi 10.6 GLB1 GLA GALC ARSA
48 gm1-gangliosidosis, type iii 10.5 HEXB GLB1 CTSA
49 lysosomal and lipase deficiency 10.5 SMPD1 NPC2 NPC1 CHIT1
50 gm1-gangliosidosis, type ii 10.5 HEXB GM2A GLB1

Graphical network of the top 20 diseases related to Sphingolipidosis:



Diseases related to Sphingolipidosis

Symptoms & Phenotypes for Sphingolipidosis

GenomeRNAi Phenotypes related to Sphingolipidosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00249-S 9.89 CHIT1 CTSA GBA GLA HEXA HEXB
2 Decreased viability GR00381-A-1 9.89 CHIT1 GLA SMPD1 UGCG
3 Decreased viability GR00386-A-1 9.89 ASAH2 HEXA
4 Decreased viability GR00402-S-2 9.89 ADPRH ARSA CHIT1 GBA GLB1
5 shRNA abundance <= 50% GR00343-S 9.28 ADPRH ARSA ASAH2 BECN1 CTSA GM2A

MGI Mouse Phenotypes related to Sphingolipidosis:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.37 ARSA BECN1 CTSA GALC GBA GLA
2 growth/size/body region MP:0005378 10.33 BECN1 CTSA GALC GBA GLA GLB1
3 cellular MP:0005384 10.32 BECN1 CTSA GALC GBA GLA GLB1
4 homeostasis/metabolism MP:0005376 10.31 ARSA ASAH2 BECN1 CTSA GALC GBA
5 immune system MP:0005387 10.21 ADPRH ARSA BECN1 CHIT1 CTSA GALC
6 hematopoietic system MP:0005397 10.17 ARSA BECN1 CTSA GALC GBA GLB1
7 mortality/aging MP:0010768 10.13 BECN1 CTSA GALC GBA GLA GLB1
8 liver/biliary system MP:0005370 10.1 BECN1 CTSA GALC GBA GLA GLB1
9 nervous system MP:0003631 10 ARSA BECN1 GALC GBA GLA GLB1
10 renal/urinary system MP:0005367 9.65 BECN1 CTSA GALC GLA GLB1 HEXA
11 respiratory system MP:0005388 9.28 BECN1 CTSA GBA NPC1 NPC2 OGA

Drugs & Therapeutics for Sphingolipidosis

Drugs for Sphingolipidosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 61)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycerol Approved, Investigational Phase 2, Phase 3 56-81-5 753
2
Alendronate Approved Phase 2 66376-36-1, 121268-17-5 2088
3
Calcium carbonate Approved, Investigational Phase 2 471-34-1
4
tannic acid Approved Phase 2 1401-55-4
5
Mesna Approved, Investigational Phase 2 3375-50-6 598
6
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
7
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
8
Mycophenolic acid Approved Phase 2 24280-93-1 446541
9
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
10
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
11
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
12
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
13
rituximab Approved Phase 2 174722-31-7 10201696
14
Tocopherol Approved, Investigational Phase 2 1406-66-2, 54-28-4 14986
15
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
16
Busulfan Approved, Investigational Phase 2 55-98-1 2478
17
alemtuzumab Approved, Investigational Phase 2 216503-57-0
18
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
19
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 5280795 6221
20
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
21 Tocotrienol Investigational Phase 2 6829-55-6
22 Micronutrients Phase 2
23 Antacids Phase 2
24 Hormones Phase 2
25 Anti-Ulcer Agents Phase 2
26 Nutrients Phase 2
27 Trace Elements Phase 2
28 Calcium, Dietary Phase 2
29 Calciferol Phase 2
30 Anti-Infective Agents Phase 2
31 Anti-Bacterial Agents Phase 2
32 Antitubercular Agents Phase 2
33 Dermatologic Agents Phase 2
34 Antifungal Agents Phase 2
35 Cyclosporins Phase 2
36 Calcineurin Inhibitors Phase 2
37 Antibiotics, Antitubercular Phase 2
38 Vitamins Phase 2
39 Alpha-lipoic Acid Phase 2
40 Thioctic Acid Phase 2
41 Tocopherols Phase 2
42 Tocotrienols Phase 2
43 N-monoacetylcystine Phase 2
44 Antilymphocyte Serum Phase 2
45 Immunologic Factors Phase 2
46 Immunosuppressive Agents Phase 2
47 Antineoplastic Agents, Immunological Phase 2
48 Alkylating Agents Phase 2
49 Antirheumatic Agents Phase 2
50
Calcium Nutraceutical Phase 2 7440-70-2 271

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 Study of Glyceryl Trierucate and Glyceryl Trioleate (Lorenzo's Oil) Therapy in Male Children With Adrenoleukodystrophy Suspended NCT00004418 Phase 2, Phase 3 glyceryl trierucate;glyceryl trioleate
2 Phase II Study of Glucocerebrosidase in Patients With Gaucher Disease Unknown status NCT00004293 Phase 2 glucocerebrosidase
3 Phase II Randomized Study of Alendronate Sodium for Osteopenia in Patients With Gaucher's Disease Completed NCT00004488 Phase 2 alendronate sodium;calcium carbonate;cholecalciferol
4 Allogeneic Hematopoietic Stem Cell Transplantation for Standard Risk Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
5 MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
6 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
7 Phase I Study of Retrovirally Mediated Transfer of the Human Glucocerebrosidase Gene Into Peripheral Blood Stem Cells for Autologous Transplantation in Patients With Type I Gaucher Disease Completed NCT00004294 Phase 1
8 A Study Evaluating BPX-501 T Cells and AP1903 for Prevention of Graft Versus Host Disease (GVHD) After Haploidentical, Related, T Cell-Depleted Hematopoietic Cell Transplantation for Non-Malignant Diseases Active, not recruiting NCT02231710 Phase 1
9 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
10 Randomized Study of Beta Interferon and Thalidomide in Patients With Adrenoleukodystrophy Completed NCT00004450 glyceryl trierucate;glyceryl trioleate;interferon beta;thalidomide
11 A Multicenter Study to Evaluate and Characterize the Ex Vivo Effect of Pharmacological Chaperone Therapy in Blood Cell Lines Derived From Patients With Gaucher Disease Completed NCT00351156
12 Stem Cell Transplantation (SCT) for Genetic Diseases Completed NCT00004378
13 Observational and Cross-Sectional Cohort Study of the Natural History and Phenotypic Spectrum of Farber Disease Completed NCT03233841
14 The Hunter James Kelly Research Institute's Clinical Database of Patients With Krabbe Disease, A World-Wide Registry Recruiting NCT02993796
15 Lyso-Gb1 as a Long-term Prognostic Biomarker in Gaucher Disease: An International, Multicenter, Epidemiological Protocol Recruiting NCT02416661
16 Biomarker for Gaucher Disease an International, Multicenter, Epidemiological Protocol Active, not recruiting NCT01331642
17 Biomarker for Gangliosidosis: BioGM1 / BioGM2 AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02298647
18 Natural History Study of Children With Metachromatic Leukodystrophy Terminated NCT01963650
19 Study of Bile Acids in Patients With Peroxisomal Disorders Terminated NCT00004442 chenodeoxycholic acid;cholic acid;ursodiol

Search NIH Clinical Center for Sphingolipidosis

Cochrane evidence based reviews: sphingolipidoses

Genetic Tests for Sphingolipidosis

Anatomical Context for Sphingolipidosis

MalaCards organs/tissues related to Sphingolipidosis:

40
Skin, Brain, T Cells, Testes, Bone Marrow, Bone, Liver

Publications for Sphingolipidosis

Articles related to Sphingolipidosis:

(show top 50) (show all 330)
# Title Authors PMID Year
1
The pharmacological chaperone effect of N-octyl-beta-valienamine on human mutant acid beta-glucosidases. 54 61
19857976 2010
2
Application of a comprehensive protocol for the identification of Gaucher disease in Brazil. 61 54
15937950 2005
3
Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms. 61 54
15146461 2004
4
Application of delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in cultured skin fibroblasts from sphingolipidosis patients. 61 54
11934514 2002
5
A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation. 61 54
11309366 2001
6
Novel point mutation (W184R) in neonatal type 2 Gaucher disease. 54 61
10679038 2000
7
Application of delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in tissues from sphingolipidosis patients. 54 61
10491988 1999
8
Genetic fine localization of the beta-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease. 61 54
9225972 1997
9
Gaucher disease: functional expression of the normal glucocerebrosidase and Gaucher T1366G and G1604A alleles in Baculovirus-transfected Spodoptera frugiperda cells. 61 54
9240741 1996
10
Hematopoietic cell transplantation in the twitcher mouse. The effects of pretransplant conditioning with graded doses of busulfan. 54 61
8101401 1993
11
Molecular analysis of Gaucher disease: screening of patients in the Montreal/Quebec region. 54 61
1776640 1991
12
Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification. 61
32414121 2020
13
Targeting defective sphingosine kinase 1 in Niemann-Pick type C disease with an activator mitigates cholesterol accumulation. 61
32385114 2020
14
Metabolomic Studies of Lipid Storage Disorders, with Special Reference to Niemann-Pick Type C Disease: A Critical Review with Future Perspectives. 61
32260582 2020
15
Lysosomal Ceramide Metabolism Disorders: Implications in Parkinson's Disease. 61
32098196 2020
16
Primary adrenal insufficiency: New genetic causes and their long-term consequences. 61
31610036 2020
17
A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy. 61
32322566 2020
18
β-Galactosylceramidase Deficiency Causes Bone Marrow Vascular Defects in an Animal Model of Krabbe Disease. 61
31905906 2019
19
Emerging mechanisms of drug-induced phospholipidosis. 61
31408430 2019
20
Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study. 61
31091195 2019
21
A novel association between angiokeratoma corporis diffusum and acid sphingomyelinase deficiency. 61
31576605 2019
22
DEGS1 variant causes neurological disorder. 61
31186544 2019
23
Advances in Sphingolipidoses: CRISPR-Cas9 Editing as an Option for Modelling and Therapy. 61
31771289 2019
24
Isolation and Quantification of Sphingosine and Sphinganine from Rat Serum Revealed Gender Differences. 61
31500283 2019
25
Hexb enzyme deficiency leads to lysosomal abnormalities in radial glia and microglia in zebrafish brain development. 61
31140649 2019
26
Ceramide synthase inhibition by fumonisins: a perfect storm of perturbed sphingolipid metabolism, signaling, and disease. 61
31048407 2019
27
SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency. 61
30517686 2019
28
Inhibition of the IGF-1-PI3K-Akt-mTORC2 pathway in lipid rafts increases neuronal vulnerability in a genetic lysosomal glycosphingolipidosis. 61
31036560 2019
29
ROS Scavenger, Ebselen, Has No Preventive Effect in New Hearing Loss Model Using a Cholesterol-Chelating Agent. 61
30727719 2019
30
Fabry disease in cardiology practice: Literature review and expert point of view. 61
30826269 2019
31
Sphingolipids and neuronal degeneration in lysosomal storage disorders. 61
29959861 2019
32
Defective Sphingolipids Metabolism and Tumor Associated Macrophages as the Possible Links Between Gaucher Disease and Blood Cancer Development. 61
30781349 2019
33
Efficacy of pentosan polysulfate in in vitro models of lysosomal storage disorders: Fabry and Gaucher Disease. 61
31150494 2019
34
Sphingosine phosphate lyase insufficiency syndrome (SPLIS): A novel inborn error of sphingolipid metabolism. 61
30274713 2019
35
Impaired autophagic and mitochondrial functions are partially restored by ERT in Gaucher and Fabry diseases. 61
30633777 2019
36
Sphingolipids in neurodegeneration (with focus on ceramide and S1P). 61
30287225 2018
37
Scope and Burden of Non-Standard of Care Hematopoietic Stem Cell Transplantation in Pediatric Leukodystrophy Patients. 61
30261790 2018
38
Niemann-Pick type C disease: The atypical sphingolipidosis. 61
30205942 2018
39
[Gaucher's disease - an overview about a sphingolipidosis]. 61
30468119 2018
40
[The basics of lysosomal storage diseases]. 61
30468118 2018
41
In Silico Analysis of Missense Mutations as a First Step in Functional Studies: Examples from Two Sphingolipidoses. 61
30384423 2018
42
Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders. 61
29556840 2018
43
Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature. 61
29290526 2018
44
Optimization of ultra-high pressure liquid chromatography - tandem mass spectrometry determination in plasma and red blood cells of four sphingolipids and their evaluation as biomarker candidates of Gaucher's disease. 61
29061473 2017
45
Recent advances and novel treatments for sphingolipidoses. 61
28857617 2017
46
A simple method for quantification of plasma globotriaosylsphingosine: Utility for Fabry disease. 61
28847675 2017
47
Diastereomer-specific quantification of bioactive hexosylceramides from bacteria and mammals. 61
28373486 2017
48
Characterization of Drosophila Saposin-related mutants as a model for lysosomal sphingolipid storage diseases. 61
28389479 2017
49
Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS. 61
27533120 2017
50
Simultaneous quantitation of sphingoid bases by UPLC-ESI-MS/MS with identical 13C-encoded internal standards. 61
28089753 2017

Variations for Sphingolipidosis

Expression for Sphingolipidosis

Search GEO for disease gene expression data for Sphingolipidosis.

Pathways for Sphingolipidosis

Pathways related to Sphingolipidosis according to KEGG:

36
# Name Kegg Source Accession
1 Sphingolipid metabolism hsa00600
2 Lysosome hsa04142

Pathways related to Sphingolipidosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.81 UGCG SMPD1 PSAP NPC2 NPC1 HEXB
2
Show member pathways
12.17 UGCG SMPD1 PSAP HEXB HEXA GM2A
3
Show member pathways
11.58 HEXB HEXA GLB1
4 11.54 SMPD1 PSAP NPC2 NPC1 HEXB HEXA
5
Show member pathways
11.5 HEXB HEXA CHIT1
6
Show member pathways
11.15 HEXB HEXA GLA
7
Show member pathways
10.99 HEXB HEXA GLB1
8
Show member pathways
10.8 HEXB HEXA GLB1
9 10.71 HEXB HEXA GLB1 GBA
10
Show member pathways
10.62 NPC2 NPC1

GO Terms for Sphingolipidosis

Cellular components related to Sphingolipidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.1 SMPD1 PSAP NPC2 NPC1 HEXB GM2A
2 extracellular exosome GO:0070062 10.1 SMPD1 RAB8A PSAP NPC2 NPC1 HEXB
3 extracellular space GO:0005615 10.07 SMPD1 PSAP NPC2 HEXB GLB1 GBA
4 Golgi apparatus GO:0005794 10.01 UGCG RAB8A NPC1 GLB1 GLA GBA
5 endosome GO:0005768 9.88 SMPD1 RAB8A NPC1 BECN1 ARSA
6 lysosomal membrane GO:0005765 9.76 PSAP NPC1 GBA CTSA
7 lysosomal lumen GO:0043202 9.73 SMPD1 PSAP NPC2 HEXB HEXA GM2A
8 azurophil granule lumen GO:0035578 9.7 NPC2 HEXB GM2A GLB1 GLA CTSA
9 lysosome GO:0005764 9.47 SMPD1 PSAP NPC2 NPC1 HEXB HEXA
10 azurophil granule GO:0042582 9.43 HEXB HEXA

Biological processes related to Sphingolipidosis according to GeneCards Suite gene sharing:

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 intracellular protein transport GO:0006886 9.94 RAB8A PSAP CTSA ADPRH
2 lipid metabolic process GO:0006629 9.92 UGCG PSAP NPC2 NPC1 GM2A GBA
3 neutrophil degranulation GO:0043312 9.91 PSAP NPC2 HEXB GM2A GLB1 GLA
4 lipid transport GO:0006869 9.84 PSAP NPC2 NPC1 GM2A
5 carbohydrate metabolic process GO:0005975 9.83 HEXB HEXA GLB1 GLA CHIT1
6 steroid metabolic process GO:0008202 9.81 NPC2 NPC1 GBA
7 autophagy GO:0006914 9.8 RAB8A NPC1 GBA BECN1 ARSA
8 myelination GO:0042552 9.76 PSAP HEXB GALC
9 cholesterol metabolic process GO:0008203 9.76 SMPD1 NPC2 NPC1 GBA
10 neuromuscular process controlling balance GO:0050885 9.72 PSAP HEXB GM2A
11 ceramide biosynthetic process GO:0046513 9.67 SMPD1 GBA ASAH2
12 lipid storage GO:0019915 9.65 HEXB GM2A
13 low-density lipoprotein particle clearance GO:0034383 9.65 NPC2 NPC1
14 cholesterol transport GO:0030301 9.65 NPC2 NPC1
15 ceramide metabolic process GO:0006672 9.65 SMPD1 PSAP ASAH2
16 cholesterol efflux GO:0033344 9.64 NPC2 NPC1
17 lysosomal transport GO:0007041 9.63 PSAP NPC1
18 sphingolipid metabolic process GO:0006665 9.63 UGCG PSAP GM2A GBA GALC ASAH2
19 hyaluronan catabolic process GO:0030214 9.62 HEXB HEXA
20 sphingosine biosynthetic process GO:0046512 9.62 GBA ASAH2
21 chondroitin sulfate catabolic process GO:0030207 9.61 HEXB HEXA
22 response to pH GO:0009268 9.61 GBA ARSA
23 metabolic process GO:0008152 9.61 SMPD1 OGA HEXB HEXA GLB1 GLA
24 intracellular cholesterol transport GO:0032367 9.6 NPC2 NPC1
25 oligosaccharide catabolic process GO:0009313 9.59 HEXB GM2A
26 ganglioside catabolic process GO:0006689 9.58 HEXB GM2A
27 cornified envelope assembly GO:1903575 9.57 UGCG PSAP
28 positive regulation of hydrolase activity GO:0051345 9.56 PSAP GM2A
29 keratan sulfate catabolic process GO:0042340 9.54 HEXB HEXA GLB1
30 termination of signal transduction GO:0023021 9.52 SMPD1 GBA
31 galactosylceramide catabolic process GO:0006683 9.51 PSAP GALC
32 glycosphingolipid metabolic process GO:0006687 9.4 UGCG SMPD1 PSAP HEXB HEXA GM2A

Molecular functions related to Sphingolipidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.8 SMPD1 OGA HEXB HEXA GM2A GLB1
2 enzyme activator activity GO:0008047 9.58 PSAP GM2A CTSA
3 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.55 HEXB HEXA GLB1 GLA CHIT1
4 galactoside binding GO:0016936 9.43 GLB1 GLA
5 beta-N-acetylhexosaminidase activity GO:0004563 9.43 HEXB HEXA GM2A
6 beta-galactosidase activity GO:0004565 9.37 PSAP GLB1
7 N-acetyl-beta-D-galactosaminidase activity GO:0102148 9.32 HEXB HEXA
8 hydrolase activity, acting on glycosyl bonds GO:0016798 9.28 SMPD1 OGA HEXB HEXA GLB1 GLA

Sources for Sphingolipidosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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